NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000797570.6
Allele description
NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp)
Condition(s)
- Name:
- TWIST1-related craniosynostosis (CRS1)
- Synonyms:
- Craniosynostosis 1
- Identifiers:
- MONDO: MONDO:0007399; MedGen: C4551902; Orphanet: 63440; OMIM: 123100
- Name:
- Saethre-Chotzen syndrome (SCS)
- Synonyms:
- ACS III; Acrocephalo-syndactyly, type 3; Chotzen syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007042; MedGen: C0175699; Orphanet: 794; OMIM: 101400
-
Mus musculus MHC class I related protein 1 isoform A (MR1A) mRNA, complete cds
Mus musculus MHC class I related protein 1 isoform A (MR1A) mRNA, complete cdsgi|4102225|gb|AF010448.1|Nucleotide
-
Mus musculus strain C57BL/6 solute carrier family 4 sodium bicarbonate cotranspo...
Mus musculus strain C57BL/6 solute carrier family 4 sodium bicarbonate cotransporter member 7 variant NBCn1-J (slc4a7) mRNA, complete cds, alternatively splicedgi|309099462|gb|HM624050.1|Nucleotide
-
Mus musculus SAC1 (suppressor of actin mutations 1, homolog)-like (S. cerevisiae...
Mus musculus SAC1 (suppressor of actin mutations 1, homolog)-like (S. cerevisiae), mRNA (cDNA clone MGC:143540 IMAGE:40090558), complete cdsgi|109734643|gb|BC117753.1|Nucleotide
-
Mus musculus adaptor protein, phosphotyrosine interaction, PH domain and leucine...
Mus musculus adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1, mRNA (cDNA clone MGC:69973 IMAGE:6511401), complete cdsgi|39645729|gb|BC063751.1|Nucleotide
-
Mus musculus LBA (Lba) mRNA, complete cds
Mus musculus LBA (Lba) mRNA, complete cdsgi|10180265|gb|AF187731.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 5, 2024